ArticlePloS one2013
Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Sparse canonical correlation to identify breast cancer related genes regulated by copy number aberrations.PloS one · 2022Pooled it
- Whole-Genome Landscape of Retinal Hemangioblastomas.Translational vision science & technology · 2026Article
- Identifying genes associated with disease outcomes using joint sparse canonical correlation analysis-An application in renal clear cell carcinoma.Genetic epidemiology · 2024Article
- Prognostic Value of Germline Copy Number Variants and Environmental Exposures in Non-small Cell Lung Cancer.Frontiers in genetics · 2021Article
- Direct to consumer genetic testing-law and policy concerns in Ireland.Irish journal of medical science · 2018Article
- Stress-inducible Protein-1 promotes metastasis of gastric cancer via Wnt/β-catenin signaling pathway.Journal of experimental & clinical cancer research : CR · 2018Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- Autocrine and paracrine STIP1 signaling promote osteolytic bone metastasis in renal cell carcinoma.Oncotarget · 2017Article
- Somatic gene copy number alterations in colorectal cancer: new quest for cancer drivers and biomarkers.Oncogene · 2016Review
- Extensive Transcriptomic and Genomic Analysis Provides New Insights about Luminal Breast Cancers.PloS one · 2016Article
- Next generation sequencing profiling identifies miR-574-3p and miR-660-5p as potential novel prognostic markers for breast cancer.BMC genomics · 2015Article
- The association of copy number variation and percent mammographic density.BMC research notes · 2015Article
- Identification of rare germline copy number variations over-represented in five human cancer types.Molecular cancer · 2015Article
- Novel genes associated with colorectal cancer are revealed by high resolution cytogenetic analysis in a patient specific manner.PloS one · 2013Article
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Authors and funding
8 authors.
Funding
Abstract
Breast cancer recurrence (BCR) is a common treatment outcome despite curative-intent primary treatment of non-metastatic breast cancer. Currently used prognostic and predictive factors utilize tumor-based markers, and are not optimal determinants of risk of BCR. Germline-based copy number aberrations (CNAs) have not been evaluated as determinants of predisposition to experience BCR. In this study, we accessed germline DNA from 369 female breast cancer subjects who received curative-intent primary treatment following diagnosis. Of these, 155 experienced BCR and 214 did not, after a median duration of follow up after breast cancer diagnosis of 6.35 years (range = 0.60-21.78) and 8.60 years (range = 3.08-13.57), respectively. Whole genome CNA genotyping was performed on the Affymetrix SNP array 6.0 platform. CNAs were identified using the SNP-Fast Adaptive States Segmentation Technique 2 algorithm implemented in Nexus Copy Number 6.0. Six samples were removed due to poor quality scores, leaving 363 samples for further analysis. We identified 18,561 CNAs with ≥1 kb as a predefined cut-off for observed aberrations. Univariate survival analyses (log-rank tests) identified seven CNAs (two copy number gains and five copy neutral-loss of heterozygosities, CN-LOHs) showing significant differences (P<2.01×10(-5)) in recurrence-free survival (RFS) probabilities with and without CNAs.We also observed three additional but distinct CN-LOHs showing significant differences in RFS probabilities (P<2.86×10(-5)) when analyses were restricted to stratified cases (luminal A, n = 208) only. After adjusting for tumor stage and grade in multivariate analyses (Cox proportional hazards models), all the CNAs remained strongly associated with the phenotype of BCR. Of these, we confirmed three CNAs at 17q11.2, 11q13.1 and 6q24.1 in representative samples using independent genotyping platforms. Our results suggest further investigations on the potential use of germline DNA variations as prognostic markers in cancer-associated phenotypes.
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